Juvenile polyposis syndrome

Juvenile polyposis syndrome, also referred as familial juvenile polyposis, is one of the polyposis syndromes and consists of hundreds of juvenile polyps.

Epidemiology

Presentation in the second decade is most common .

Clinical presentation

Rectal bleeding, bowel obstruction and intussusception are common presentations.

Pathology

Juvenile polyposis syndrome is characterized by the presence of hundreds of hamartomatous polyps containing fluid/mucus.

Genetics

Both the tumor suppressor gene SMAD4 on chromosome 10q (50% of cases) and BMPR1A gene have been implicated. The genetic basis is not always known .

Associations

Other congenital abnormalities are present in 20% of patients :

• intestinal malrotation
• Meckel diverticulum
• hydrocephalus
• congenital heart disease
• mesenteric lymphangioma
• pulmonary arteriovenous malformation

Treatment and prognosis

These hamartomatous polyps may degenerate into adenomas and subsequently ~40% will develop colorectal carcinoma .

Differential diagnosis

• isolated juvenile polyps (i.e. not syndromal)
• adenomatous polyp
• inflammatory bowel disease with inflammatory polyps
• other polyposis syndromes, e.g. familial adenomatous polyposis syndrome